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Ectodermal dysplasia

Gene: FAM210A

Amber List (moderate evidence)
FAM210A (family with sequence similarity 210 member A)
EnsemblGeneIds (GRCh38): ENSG00000177150
EnsemblGeneIds (GRCh37): ENSG00000177150
FAM210A is in 2 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There are three unrelated families reported with ectodermal dysplasia and biallelic FAM210A variants. Hence, this gene can be promoted to green rating in the next GMS update.
Created: 24 Jul 2026, 9:31 p.m. | Last Modified: 24 Jul 2026, 9:31 p.m.
Panel Version: 5.4
The 'new-gene-name' tag has been added as the official HGNC gene symbol is MIMS1.
Created: 24 Jul 2026, 9:30 p.m. | Last Modified: 24 Jul 2026, 9:30 p.m.
Panel Version: 5.3
PMID:42410297 (2026) reported five patients from four unrelated families with skeletal dysplasia phenotype characterised by spondyloepimetaphyseal dysplasiachondrodysplasia with short stature (all patents), tracheal stenosis (all patients), conical teeth and/or early tooth decay, and sparse hair suggestive of ectodermal dysplasia (in three unrelated patients).

They were identified with biallelic variants in FAM210A gene (new gene name - MIMS1) - homozygous missense variants in three families and compound heterozygous nonsense variants in the first family with two siblings.

This gene has been associated with relevant phenotype in OMIM (MIM #621650, last accessed 24 July 2026), but not in Gene2Phenotype or ClinGen.
Sources: Literature
Created: 24 Jul 2026, 9:26 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondyloepimetaphyseal dysplasia with tracheal stenosis and ectodermal dysplasia, OMIM:621650

Publications

Created: 24 Jul 2026, 9:26 p.m.

Panel version: 5.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Spondyloepimetaphyseal dysplasia with tracheal stenosis and ectodermal dysplasia, OMIM:621650
Tags
new-gene-name Q3_26_promote_green
Clinvar variants
Variants in FAM210A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jul 2026, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: fam210a has been classified as Amber List (Moderate Evidence).

24 Jul 2026, Gel status: 1

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag new-gene-name tag was added to gene: FAM210A.

24 Jul 2026, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: FAM210A was added gene: FAM210A was added to Ectodermal dysplasia. Sources: Literature Q3_26_promote_green tags were added to gene: FAM210A. Mode of inheritance for gene: FAM210A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAM210A were set to 42410297 Phenotypes for gene: FAM210A were set to Spondyloepimetaphyseal dysplasia with tracheal stenosis and ectodermal dysplasia, OMIM:621650 Review for gene: FAM210A was set to GREEN